K60N (p.Lys60Asn) variant of TUBA1A (Tubulin alpha-1A chain)
K60N (p.Lys60Asn) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital cerebellar hypoplasia; Cerebellar vermis hypoplasia; Lissencephaly du. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
K60N (p.Lys60Asn) variant details
- p.Lys60Asn
- rs1565627707
- ClinGen CA384644898
- ClinVar RCV000779654
- ClinVar RCV001258015
- Likely pathogenic
- Congenital cerebellar hypoplasia; Cerebellar vermis hypoplasia; Lissencephaly du
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- AlphaMissense 0.98
- MetaLR 0.76
- MetaSVM 0.43
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.53
- ClinVar: Likely pathogenic (Congenital cerebellar hypoplasia; Cerebellar vermis hypoplasia;)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)